ClinVar Miner

List of variants in gene TNFRSF13C studied for common variable immunodeficiency

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_052945.4(TNFRSF13C):c.*120T>C rs7290134 0.41881
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_052945.4(TNFRSF13C):c.367+18G>A rs200206184 0.00114
NM_052945.4(TNFRSF13C):c.368-15C>A rs372331667 0.00073
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser) rs151243201 0.00073
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=) rs371805226 0.00017
NM_052945.4(TNFRSF13C):c.405G>A (p.Pro135=) rs140406834 0.00008
NM_052945.4(TNFRSF13C):c.*113G>A rs550105406 0.00004
NM_052945.4(TNFRSF13C):c.424G>A (p.Ala142Thr) rs367567995 0.00002
NM_052945.4(TNFRSF13C):c.347C>T (p.Ala116Val) rs886057588 0.00001
NM_052945.4(TNFRSF13C):c.360C>T (p.Asp120=) rs756643677 0.00001
NM_052945.4(TNFRSF13C):c.367+14G>C rs781263826 0.00001
NM_052945.4(TNFRSF13C):c.367+16A>G rs755181593 0.00001
NM_052945.4(TNFRSF13C):c.367G>A (p.Ala123Thr) rs1303897969 0.00001
NM_052945.4(TNFRSF13C):c.368-10C>G rs374836008 0.00001
NM_052945.4(TNFRSF13C):c.392T>C (p.Ile131Thr) rs1013387691 0.00001
NM_052945.4(TNFRSF13C):c.433T>A (p.Trp145Arg) rs1180513439 0.00001
NM_052945.4(TNFRSF13C):c.447G>A (p.Gly149=) rs746050423 0.00001
NM_052945.4(TNFRSF13C):c.538G>A (p.Gly180Ser) rs772090919 0.00001
NC_000022.11:g.(?_41925347)_(41926793_?)dup
NM_052945.4(TNFRSF13C):c.*107G>C rs2077623255
NM_052945.4(TNFRSF13C):c.*253C>T rs2077622673
NM_052945.4(TNFRSF13C):c.344A>T (p.Glu115Val) rs2077628213
NM_052945.4(TNFRSF13C):c.351C>G (p.Pro117=) rs577781803
NM_052945.4(TNFRSF13C):c.357A>G (p.Gly119=)
NM_052945.4(TNFRSF13C):c.367+10G>T rs1052448266
NM_052945.4(TNFRSF13C):c.367+1del
NM_052945.4(TNFRSF13C):c.368-13C>G rs201892760
NM_052945.4(TNFRSF13C):c.368-13C>T rs201892760
NM_052945.4(TNFRSF13C):c.370C>T (p.Pro124Ser)
NM_052945.4(TNFRSF13C):c.375G>T (p.Glu125Asp)
NM_052945.4(TNFRSF13C):c.403C>T (p.Pro135Ser) rs1385697615
NM_052945.4(TNFRSF13C):c.431C>T (p.Ala144Val) rs1000961266
NM_052945.4(TNFRSF13C):c.445G>A (p.Gly149Arg)
NM_052945.4(TNFRSF13C):c.452A>T (p.Asp151Val) rs942451212
NM_052945.4(TNFRSF13C):c.478A>G (p.Ser160Gly) rs1569421592
NM_052945.4(TNFRSF13C):c.479G>T (p.Ser160Ile) rs2146588362
NM_052945.4(TNFRSF13C):c.485C>T (p.Pro162Leu) rs1602373110
NM_052945.4(TNFRSF13C):c.497C>T (p.Thr166Ile) rs1185675031
NM_052945.4(TNFRSF13C):c.504G>A (p.Leu168=)
NM_052945.4(TNFRSF13C):c.507C>T (p.Gly169=) rs1200767252
NM_052945.4(TNFRSF13C):c.508T>C (p.Ser170Pro)
NM_052945.4(TNFRSF13C):c.511A>T (p.Thr171Ser)
NM_052945.4(TNFRSF13C):c.512C>G (p.Thr171Ser)
NM_052945.4(TNFRSF13C):c.522G>A (p.Val174=)
NM_052945.4(TNFRSF13C):c.534_543delinsAATAGCAGG (p.Ala179fs) rs1602373048
NM_052945.4(TNFRSF13C):c.537C>G (p.Ala179=) rs146580897
NM_052945.4(TNFRSF13C):c.537C>T (p.Ala179=) rs146580897
NM_052945.4(TNFRSF13C):c.538G>C (p.Gly180Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.